English
Klinische FragestellungCushing-Syndrom, Nebennieren-Hyperplasie; Differentialdiagnose
Zusammenfassung
Kurzinformation
CP5912_KI
ID
CP5912
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 13 |
Untersuchte Sequenzlänge
7,8 kb (Core-/Core-canditate-Gene)
34,3 kb (Erweitertes Panel: inkl. additional genes)
34,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
CP5912_DH
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ARMC5 | 2808 | NM_001105247.2 | AD | |
| PDE11A | 1470 | NM_001077196.2 | AD | |
| PDE8B | 2367 | NM_001029851.4 | AD | |
| PRKAR1A | 1146 | NM_002734.5 | AD | |
| APC | 8532 | NM_000038.6 | AD | |
| CDKN1B | 597 | NM_004064.5 | AD | |
| DICER1 | 5769 | NM_177438.3 | AD | |
| GNAS | 1185 | NM_000516.7; NM_016592.3; NM_080425.3 | SMu | |
| MC2R | 894 | NM_000529.2 | n.k. | |
| MEN1 | 1833 | NM_130799.2 | AD | |
| PRKACA | 1056 | NM_002730.4 | n.k. | |
| USP48 | 3259 | NM_001032730.3 | n.k., SMu | |
| USP8 | 3357 | NM_005154.5 | n.k., SMu |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_CP5912
Synonyme
- Alias: ACTH-independent macronodular adrenocortical hyperplasia
- Alias: Adrenal Cushing syndrome due to AIMAH
- Alias: Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
- Alias: Corticotropin-independent macronodular adrenal hyperplasia
- Alias: Primary bilateral macronodular adrenal hyperplasia
- Allelic: Acrodysostosis 1, +/- hormone resistance (PRKAR1A)
- Allelic: Adenomatous polyposis coli (APC)
- Allelic: Brain tumor-polyposis syndrome 2 (APC)
- Allelic: Carcinoid tumor of lung (MEN1)
- Allelic: Cardioacrofacial dysplasia 1 (PRKACA)
- Allelic: Carney complex, type 1 (PRKAR1A)
- Allelic: Congenital Adrenal Hypoplasia (MC2R)
- Allelic: Desmoid disease, hereditary (APC)
- Allelic: Fumarase deficiency (FH)
- Allelic: Gardner syndrome (APC)
- Allelic: Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
- Allelic: Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
- Allelic: Ideopathic Primary Adrenal Failure (MC2R)
- Allelic: Leiomyomatosis + renal cell cancer (FH)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Multiple endocrine neoplasia 1 (MEN1)
- Allelic: Myxoma, intracardiac (PRKAR1A)
- Allelic: Osseous heteroplasia, progressive (GNAS)
- Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
- Allelic: Pseudohypoparathyroidism Ia (GNAS)
- Allelic: Pseudohypoparathyroidism Ib (GNAS)
- Allelic: Pseudohypoparathyroidism Ic (GNAS)
- Allelic: Pseudopseudohypoparathyroidism (GNAS)
- Allelic: Striatal degeneration, AD (PDE8B)
- ACTH-independent macronodular adrenal hyperplasia (GNAS)
- ACTH-independent macronodular adrenal hyperplasia 2 (ARMC5)
- Bilateral adrenal hyperplasia (APC, FH, MC2R, MEN1)
- Cushing syndrome, ACTH-independent adrenal, somatic (PRKACA)
- Isolated micronodular adrenal hyperplasia (PDE11B, PDE8B)
- Macronodular adrenal hyperplasia (GNAS)
- Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
- Pigmented nodular adrenocortical disease, primary, 2 (PDE11A)
- Pigmented nodular adrenocortical disease, primary, 3 (PDE8B)
- Primary bilateral macronodular adrenal hyperplasia (APC, ARMC5, MEN1, MC2R, PRKACA)
- Primary pigmented micronodular adrenal dysplasia (PRKAR1A)
Erbgänge, Vererbungsmuster etc.
- AD
- SMu
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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